Congenital mirror movements
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Auteurs : Aurélie Méneret ; Christel Depienne ; Florence Riant ; Oriane Trouillard ; Delphine Bouteiller ; Massimo Cincotta ; Pierre Bitoun ; Julia Wickert ; Isabelle Lagroua ; Ana Westenberger ; Alessandra Borgheresi ; Diane Doummar ; Marcello Romano ; Simone Rossi ; Luc Defebvre [France] ; Linda De Meirleir ; Alberto J. Espay ; Simona Fiori ; Stephan Klebe ; Chloé Quélin ; Sabine Rudnik-Schöneborn ; Ghislaine Plessis ; Russell C. Dale ; Susan Sklower Brooks ; Karolina Dziezyc ; Pierre Pollak ; Jean-Louis Golmard ; Marie Vidailhet ; Alexis Brice ; Emmanuel RozeSource :
- Neurology [ 0028-3878 ] ; 2014.
Abstract
We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes,
We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of
We found 3 novel truncating mutations of
Mutations and variants in
Url:
DOI: 10.1212/WNL.0000000000000477
PubMed: 24808016
PubMed Central: 4105259
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Congenital mirror movements</title><author><name sortKey="Meneret, Aurelie" sort="Meneret, Aurelie" uniqKey="Meneret A" first="Aurélie" last="Méneret">Aurélie Méneret</name></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name></author><author><name sortKey="Riant, Florence" sort="Riant, Florence" uniqKey="Riant F" first="Florence" last="Riant">Florence Riant</name></author><author><name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name></author><author><name sortKey="Bouteiller, Delphine" sort="Bouteiller, Delphine" uniqKey="Bouteiller D" first="Delphine" last="Bouteiller">Delphine Bouteiller</name></author><author><name sortKey="Cincotta, Massimo" sort="Cincotta, Massimo" uniqKey="Cincotta M" first="Massimo" last="Cincotta">Massimo Cincotta</name></author><author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name></author><author><name sortKey="Wickert, Julia" sort="Wickert, Julia" uniqKey="Wickert J" first="Julia" last="Wickert">Julia Wickert</name></author><author><name sortKey="Lagroua, Isabelle" sort="Lagroua, Isabelle" uniqKey="Lagroua I" first="Isabelle" last="Lagroua">Isabelle Lagroua</name></author><author><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name></author><author><name sortKey="Borgheresi, Alessandra" sort="Borgheresi, Alessandra" uniqKey="Borgheresi A" first="Alessandra" last="Borgheresi">Alessandra Borgheresi</name></author><author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name></author><author><name sortKey="Romano, Marcello" sort="Romano, Marcello" uniqKey="Romano M" first="Marcello" last="Romano">Marcello Romano</name></author><author><name sortKey="Rossi, Simone" sort="Rossi, Simone" uniqKey="Rossi S" first="Simone" last="Rossi">Simone Rossi</name></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><affiliation><country>France</country><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName></affiliation></author><author><name sortKey="De Meirleir, Linda" sort="De Meirleir, Linda" uniqKey="De Meirleir L" first="Linda" last="De Meirleir">Linda De Meirleir</name></author><author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J." last="Espay">Alberto J. Espay</name></author><author><name sortKey="Fiori, Simona" sort="Fiori, Simona" uniqKey="Fiori S" first="Simona" last="Fiori">Simona Fiori</name></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name></author><author><name sortKey="Quelin, Chloe" sort="Quelin, Chloe" uniqKey="Quelin C" first="Chloé" last="Quélin">Chloé Quélin</name></author><author><name sortKey="Rudnik Schoneborn, Sabine" sort="Rudnik Schoneborn, Sabine" uniqKey="Rudnik Schoneborn S" first="Sabine" last="Rudnik-Schöneborn">Sabine Rudnik-Schöneborn</name></author><author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C." last="Dale">Russell C. Dale</name></author><author><name sortKey="Sklower Brooks, Susan" sort="Sklower Brooks, Susan" uniqKey="Sklower Brooks S" first="Susan" last="Sklower Brooks">Susan Sklower Brooks</name></author><author><name sortKey="Dziezyc, Karolina" sort="Dziezyc, Karolina" uniqKey="Dziezyc K" first="Karolina" last="Dziezyc">Karolina Dziezyc</name></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name></author><author><name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean-Louis" last="Golmard">Jean-Louis Golmard</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24808016</idno><idno type="pmc">4105259</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259</idno><idno type="RBID">PMC:4105259</idno><idno type="doi">10.1212/WNL.0000000000000477</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001A36</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001A36</idno><idno type="wicri:Area/Pmc/Curation">001894</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001894</idno><idno type="wicri:Area/Pmc/Checkpoint">001686</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001686</idno><idno type="wicri:Area/Ncbi/Merge">001A24</idno><idno type="wicri:Area/Ncbi/Curation">001A24</idno><idno type="wicri:Area/Ncbi/Checkpoint">001A24</idno><idno type="wicri:doubleKey">0028-3878:2014:Meneret A:congenital:mirror:movements</idno><idno type="wicri:Area/Main/Merge">003B47</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Congenital mirror movements</title><author><name sortKey="Meneret, Aurelie" sort="Meneret, Aurelie" uniqKey="Meneret A" first="Aurélie" last="Méneret">Aurélie Méneret</name></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name></author><author><name sortKey="Riant, Florence" sort="Riant, Florence" uniqKey="Riant F" first="Florence" last="Riant">Florence Riant</name></author><author><name sortKey="Trouillard, Oriane" sort="Trouillard, Oriane" uniqKey="Trouillard O" first="Oriane" last="Trouillard">Oriane Trouillard</name></author><author><name sortKey="Bouteiller, Delphine" sort="Bouteiller, Delphine" uniqKey="Bouteiller D" first="Delphine" last="Bouteiller">Delphine Bouteiller</name></author><author><name sortKey="Cincotta, Massimo" sort="Cincotta, Massimo" uniqKey="Cincotta M" first="Massimo" last="Cincotta">Massimo Cincotta</name></author><author><name sortKey="Bitoun, Pierre" sort="Bitoun, Pierre" uniqKey="Bitoun P" first="Pierre" last="Bitoun">Pierre Bitoun</name></author><author><name sortKey="Wickert, Julia" sort="Wickert, Julia" uniqKey="Wickert J" first="Julia" last="Wickert">Julia Wickert</name></author><author><name sortKey="Lagroua, Isabelle" sort="Lagroua, Isabelle" uniqKey="Lagroua I" first="Isabelle" last="Lagroua">Isabelle Lagroua</name></author><author><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name></author><author><name sortKey="Borgheresi, Alessandra" sort="Borgheresi, Alessandra" uniqKey="Borgheresi A" first="Alessandra" last="Borgheresi">Alessandra Borgheresi</name></author><author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name></author><author><name sortKey="Romano, Marcello" sort="Romano, Marcello" uniqKey="Romano M" first="Marcello" last="Romano">Marcello Romano</name></author><author><name sortKey="Rossi, Simone" sort="Rossi, Simone" uniqKey="Rossi S" first="Simone" last="Rossi">Simone Rossi</name></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><affiliation><country>France</country><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName></affiliation></author><author><name sortKey="De Meirleir, Linda" sort="De Meirleir, Linda" uniqKey="De Meirleir L" first="Linda" last="De Meirleir">Linda De Meirleir</name></author><author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J." last="Espay">Alberto J. Espay</name></author><author><name sortKey="Fiori, Simona" sort="Fiori, Simona" uniqKey="Fiori S" first="Simona" last="Fiori">Simona Fiori</name></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name></author><author><name sortKey="Quelin, Chloe" sort="Quelin, Chloe" uniqKey="Quelin C" first="Chloé" last="Quélin">Chloé Quélin</name></author><author><name sortKey="Rudnik Schoneborn, Sabine" sort="Rudnik Schoneborn, Sabine" uniqKey="Rudnik Schoneborn S" first="Sabine" last="Rudnik-Schöneborn">Sabine Rudnik-Schöneborn</name></author><author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C." last="Dale">Russell C. Dale</name></author><author><name sortKey="Sklower Brooks, Susan" sort="Sklower Brooks, Susan" uniqKey="Sklower Brooks S" first="Susan" last="Sklower Brooks">Susan Sklower Brooks</name></author><author><name sortKey="Dziezyc, Karolina" sort="Dziezyc, Karolina" uniqKey="Dziezyc K" first="Karolina" last="Dziezyc">Karolina Dziezyc</name></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name></author><author><name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean-Louis" last="Golmard">Jean-Louis Golmard</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><idno type="eISSN">1526-632X</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, <italic>DCC</italic> and <italic>RAD51</italic>.</p></sec><sec><title>Methods:</title><p>We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of <italic>DCC</italic> and <italic>RAD51</italic> coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server.</p></sec><sec><title>Results:</title><p>We found 3 novel truncating mutations of <italic>DCC</italic> that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of <italic>DCC</italic>, one <italic>DCC</italic> mutation leading to a frameshift, 5 missense variants in <italic>DCC</italic>, and 2 missense variants in <italic>RAD51</italic>. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (<italic>p</italic> < 0.001 for both <italic>RAD51</italic> and <italic>DCC</italic>).</p></sec><sec><title>Conclusion:</title><p>Mutations and variants in <italic>DCC</italic> and <italic>RAD51</italic> are strongly associated with CMM, but additional genes causing CMM remain to be discovered.</p></sec></div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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